Journal article
A new frameshift β°‐thalassemia mutation (codons 27–28 +C) found in a Chinese family
Abstract
A new beta zero-thalassemia mutation, a frameshift mutation with an insertion of a single cytosine nucleotide in codon 27-28, is described. The propositus, who is compound heterozygous for this mutation and the IVSII-654 C----T beta zero-thalassemia mutation, has the phenotype of severe beta-thalassemia major.
Authors
Cai S; Chui DHK; Ng J; Poon AO; Freedman MH; Olivieri NF
Journal
American Journal of Hematology, Vol. 37, No. 1, pp. 6–8
Publisher
Wiley
Publication Date
May 1991
DOI
10.1002/ajh.2830370103
ISSN
0361-8609